The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.
Identifieur interne : 000741 ( Main/Exploration ); précédent : 000740; suivant : 000742The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.
Auteurs : Michael Hutchinson [Irlande (pays)] ; Okka Kimmich ; Anna Molloy ; Robert Whelan ; Fiona Molloy ; Tim Lynch ; Daniel G. Healy ; Cathal Walsh ; Mark J. Edwards ; Laurie Ozelius ; Richard B. Reilly ; Seán O'RiordanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
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Abstract
The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood. Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics avoids the misattribution of secondary adaptive cerebral changes to pathogenesis. We argue that abnormal temporal discrimination is a mediational endophenotype; its use facilitates examination of the effects of age, gender, and environment on disease penetrance in adult-onset dystonia. Using abnormal temporal discrimination in unaffected first-degree relatives as a marker for gene mutation carriage may inform exome sequencing techniques in families with few affected individuals. We further hypothesize that abnormal temporal discrimination reflects dysfunction in an evolutionarily conserved subcortical-basal ganglia circuit for the detection of salient novel environmental change. The mechanisms of dysfunction in this pathway should be a focus for future research in the pathogenesis of adult-onset primary torsion dystonia.
DOI: 10.1002/mds.25676
PubMed: 24108447
Affiliations:
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Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics avoids the misattribution of secondary adaptive cerebral changes to pathogenesis. We argue that abnormal temporal discrimination is a mediational endophenotype; its use facilitates examination of the effects of age, gender, and environment on disease penetrance in adult-onset dystonia. Using abnormal temporal discrimination in unaffected first-degree relatives as a marker for gene mutation carriage may inform exome sequencing techniques in families with few affected individuals. We further hypothesize that abnormal temporal discrimination reflects dysfunction in an evolutionarily conserved subcortical-basal ganglia circuit for the detection of salient novel environmental change. The mechanisms of dysfunction in this pathway should be a focus for future research in the pathogenesis of adult-onset primary torsion dystonia.</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li></country></list><tree><noCountry><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G" last="Healy">Daniel G. Healy</name><name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><name sortKey="Molloy, Anna" sort="Molloy, Anna" uniqKey="Molloy A" first="Anna" last="Molloy">Anna Molloy</name><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Seán" last="O'Riordan">Seán O'Riordan</name><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><name sortKey="Reilly, Richard B" sort="Reilly, Richard B" uniqKey="Reilly R" first="Richard B" last="Reilly">Richard B. Reilly</name><name sortKey="Walsh, Cathal" sort="Walsh, Cathal" uniqKey="Walsh C" first="Cathal" last="Walsh">Cathal Walsh</name><name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name></noCountry><country name="Irlande (pays)"><noRegion><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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